G57C (p.Gly57Cys) variant of GLG1 (Golgi apparatus protein 1)
G57C (p.Gly57Cys) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G57C (p.Gly57Cys) variant details
- p.Gly57Cys
- cosmic curated COSV52668
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.04
- CADD 22.40
- PolyPhen-2 0.19
- SIFT 0.04
- Population evidence available
- Structural context available